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Targeted Familial Variant Analysis

Order Code: 4970

Also Known as

ABCG5, ABCG8, ACTB, ACTN1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S6, CDC42, CSF3R, CXCR4, CYCS, DIAPH1, DTNBP1, ELANE, ETV6, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, G6PC3, GATA1, GATA2, GFI1, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HAX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, ITGA2B, ITGB3, JAGN1, KDSR, KNG1, LAMTOR2, LMAN1, LYST, MCFD2, MECOM, MPIG6B, MPL, MYH9, NBEA, NBEAL2, P2RY12, PLA2G4A, PLG, PRKACG, PROC, PROS1, RAB24A, RAC2, RASGRP2, RBM8A, RNU4ATAC, RUNX1, SBDS, SERPINA1, SERPINC1, SERPIND1, SERPINE1, SERPINF2, Single Exon Sequencing, SLC37A4, SLFN14, SRC, STIM1, STXBP2, TAZ, TBXA2R, TBXAS1, THBD, THPO, TUBB1, USB1, VIPAS39, VKORC1, VPS13B, VPS33B, VPS45, VWF, WAS, WIPF1

Disease State

Test Information

Targeted genetic analysis is used to determine if a specific familial variant is present. Testing is only available for genes tested by Next Generation sequencing at Versiti Wisconsin, Inc., a sample from an affected relative must be provided a copy of the family member's lab report for the variant being tested.

Sample Requirements

EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS

Additional Sample Requirements

If original testing was not performed by Versiti Wisconsin, Inc. it is recommended that sample from an affected relative be provided as a positive control along with the patient sample. The control confirms the targeted variant and is not reported.

Shipping Information

Room Temperature or Refrigerated

Requested Volume

2-5 mL EDTA Whole Blood or Bone Marrow (lavendar top), 3-4 Buccal Swabs, >=1 ug DNA at >=50 ng/uL, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks Cultured Amniocytes or CVS (2x10^6 minimum)

Minimum/Pediatric Volume

Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood

Method

PCR amplification and bidirectional Sanger sequence analysis of the requested exon(s) are performed.

Turnaround Time

21 days, unless otherwise specified

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